Detalhe da pesquisa
1.
Accurate assignment of disease liability to genetic variants using only population data.
Genet Med
; 24(1): 87-99, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906463
2.
Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).
Lung
; 200(1): 67-71, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034192
3.
Community-Onset Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Young Infants: A Systematic Review.
J Pediatr
; 228: 94-100.e3, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910943
4.
The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function.
Mol Genet Metab
; 131(1-2): 83-89, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32389575
5.
Genetic causes of surfactant protein abnormalities.
Curr Opin Pediatr
; 31(3): 330-339, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090574
6.
Rare to "Ubiquitinous": Alveolar Capillary Dysplasia, FOXF1, and a Sly Approach to Angiogenesis.
Am J Respir Crit Care Med
; 207(8): 969-971, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608259
7.
Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement.
Am J Respir Crit Care Med
; 198(12): e116-e136, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640517
8.
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Am J Respir Crit Care Med
; 197(12): e24-e39, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905515
9.
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Acta Neuropathol
; 135(5): 727-742, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423877
10.
First Steps toward Personalized Therapies for ABCA3 Deficiency.
Am J Respir Cell Mol Biol
; 66(4): 349-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077664
11.
Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
J Pediatr
; 190: 268-270.e1, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888561
12.
A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.
Am J Respir Crit Care Med
; 200(8): 961-962, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343895
13.
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Am J Respir Crit Care Med
; 189(12): 1538-43, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24871971
14.
High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C.
Proc Natl Acad Sci U S A
; 109(7): 2325-9, 2012 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308375
15.
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Hum Mol Genet
; 21(4): 765-75, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22068586
16.
An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.
Am J Respir Crit Care Med
; 188(3): 376-94, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23905526
17.
Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.
J Pediatr
; 163(6): 1778-80, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23932215
18.
Genetic testing for diffuse lung diseases in children.
Pediatr Pulmonol
; 2023 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191361
19.
The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.
Pediatr Pulmonol
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37401889
20.
An intronic ABCA3 mutation that is responsible for respiratory disease.
Pediatr Res
; 71(6): 633-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22337229